Showing entry for Stickler syndrome, type 1



                               
General Disease Information
BXGD IdBXGD016881
Disease NameStickler syndrome, type 1
Disease CUI IdC2020284
MeSH Codes C23   C11   C17   C05   C10   C09  
Disease Class NamePathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:630  
Disease Ontology Class Namegenetic 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
P02458 BXGT005879 Collagen alpha-1(II) chain 1280 reviewed
P06731 BXGT006488 Carcinoembryonic antigen-related cell adhesion molecule 5 1048 reviewed
P07996 BXGT006710 Thrombospondin-1 7057 reviewed
P21554 BXGT008662 Cannabinoid receptor 1 1268 reviewed G-protein coupled receptor
P35222 BXGT009799 Catenin beta-1 1499 reviewed
P35354 BXGT009816 Prostaglandin G/H synthase 2 5743 reviewed Enzyme
P40199 BXGT010166 Carcinoembryonic antigen-related cell adhesion molecule 6 4680 reviewed
P40692 BXGT010195 DNA mismatch repair protein Mlh1 4292 reviewed Nucleic acid binding
P43403 BXGT010385 Tyrosine-protein kinase ZAP-70 7535 reviewed Kinase
P51812 BXGT010893 Ribosomal protein S6 kinase alpha-3 6197 reviewed Kinase
P61073 BXGT011352 C-X-C chemokine receptor type 4 7852 reviewed G-protein coupled receptor
P98164 BXGT012230 Low-density lipoprotein receptor-related protein 2 4036 reviewed
Q06520 BXGT012880 Bile salt sulfotransferase 6822 reviewed
Q14191 BXGT013452 Werner syndrome ATP-dependent helicase 7486 reviewed Enzyme
P58215 BXGT026106 Lysyl oxidase homolog 3 84695 reviewed
P00403 BXGT026137 Cytochrome c oxidase subunit 2 4513 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