Showing entry for Epidermolysis Bullosa Simplex



                               
General Disease Information
BXGD IdBXGD003073
Disease NameEpidermolysis Bullosa Simplex
Disease CUI IdC0079298
MeSH Codes C16   C17  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:630   DOID:7  
Disease Ontology Class Namegenetic disease; disease of anatomical entity
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
O60568 BXGT004885 Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 8985 reviewed Enzyme
O95639 BXGT005388 Cleavage and polyadenylation specificity factor subunit 4 10898 reviewed Enzyme
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P02533 BXGT005887 Keratin, type I cytoskeletal 14 3861 reviewed
P02751 BXGT005943 Fibronectin 2335 reviewed Signaling
P04264 BXGT006176 Keratin, type II cytoskeletal 1 3848 reviewed
P05231 BXGT006345 Interleukin-6 3569 reviewed
P07900 BXGT006696 Heat shock protein HSP 90-alpha 3320 reviewed Chaperone
P08670 BXGT006810 Vimentin 7431 reviewed
P10145 BXGT007542 Interleukin-8 3576 reviewed Signaling
P13645 BXGT007936 Keratin, type I cytoskeletal 10 3858 reviewed
P13647 BXGT007937 Keratin, type II cytoskeletal 5 3852 reviewed
P14780 BXGT008053 Matrix metalloproteinase-9 4318 reviewed Enzyme
P16144 BXGT008200 Integrin beta-4 3691 reviewed Receptor
P35527 BXGT009843 Keratin, type I cytoskeletal 9 3857 reviewed
P45983 BXGT010494 Mitogen-activated protein kinase 8 5599 reviewed Kinase
P60568 BXGT011315 Interleukin-2 3558 reviewed
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
Q15149 BXGT013547 Plectin 5339 reviewed Cellular structure
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