Showing entry for Epidermolysis Bullosa Simplex Kobner



                               
General Disease Information
BXGD IdBXGD003074
Disease NameEpidermolysis Bullosa Simplex Kobner
Disease CUI IdC0079299
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: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
P02533 BXGT005887 Keratin, type I cytoskeletal 14 3861 reviewed
P13647 BXGT007937 Keratin, type II cytoskeletal 5 3852 reviewed
P16144 BXGT008200 Integrin beta-4 3691 reviewed Receptor
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