Showing entry for Epidermolysis Bullosa



                               
General Disease Information
BXGD IdBXGD000923
Disease NameEpidermolysis Bullosa
Disease CUI IdC0014527
MeSH Codes C16   C17  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
Semantic TypeCongenital Abnormality
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:7  
Disease Ontology Class Namedisease 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
P01130 BXGT005735 Low-density lipoprotein receptor 3949 reviewed
P01583 BXGT005771 Interleukin-1 alpha 3552 reviewed
P01584 BXGT005772 Interleukin-1 beta 3553 reviewed
P02533 BXGT005887 Keratin, type I cytoskeletal 14 3861 reviewed
P03956 BXGT006120 Interstitial collagenase 4312 reviewed Enzyme
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P05231 BXGT006345 Interleukin-6 3569 reviewed
P06731 BXGT006488 Carcinoembryonic antigen-related cell adhesion molecule 5 1048 reviewed
P09429 BXGT006889 High mobility group protein B1 3146 reviewed Nucleic acid binding
P13647 BXGT007937 Keratin, type II cytoskeletal 5 3852 reviewed
P15924 BXGT008171 Desmoplakin 1832 reviewed Cellular structure
P16144 BXGT008200 Integrin beta-4 3691 reviewed Receptor
P24298 BXGT008960 Alanine aminotransferase 1 2875 reviewed Enzyme
P48061 BXGT010616 Stromal cell-derived factor 1 6387 reviewed
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P62979 BXGT011476 Ubiquitin-40S ribosomal protein S27a 6233 reviewed Nucleic acid binding
P98160 BXGT012228 Basement membrane-specific heparan sulfate proteoglycan core protein 3339 reviewed Enzyme modulator
Q02487 BXGT012656 Desmocollin-2 1824 reviewed Cell adhesion
Q08188 BXGT012965 Protein-glutamine gamma-glutamyltransferase E 7053 reviewed Enzyme
Q15149 BXGT013547 Plectin 5339 reviewed Cellular structure
Q96RT1 BXGT019736 Erbin 55914 reviewed
Q9NPD5 BXGT021151 Solute carrier organic anion transporter family member 1B3 28234 reviewed Transporter
Q9P2W7 BXGT021306 Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 27087 reviewed Enzyme
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