Showing entry for Bernard-Soulier Syndrome


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD000304
Disease NameBernard-Soulier Syndrome
Disease CUI IdC0005129
MeSH Codes C16   C15  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic 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
F7VJQ1 BXGT003310 Alternative prion protein 5621 reviewed
O00214 BXGT003897 Galectin-8 3964 reviewed Signaling
P00734 BXGT005630 Prothrombin 2147 reviewed Enzyme
P01024 BXGT005719 Complement C3 718 reviewed Enzyme modulator
P01584 BXGT005772 Interleukin-1 beta 3553 reviewed
P02751 BXGT005943 Fibronectin 2335 reviewed Signaling
P03951 BXGT006117 Coagulation factor XI 2160 reviewed Enzyme
P04003 BXGT006124 C4b-binding protein alpha chain 722 reviewed
P04156 BXGT006156 Major prion protein 5621 reviewed
P04275 BXGT006180 von Willebrand factor 7450 reviewed Enzyme modulator
P05106 BXGT006315 Integrin beta-3 3690 reviewed Receptor
P05556 BXGT006368 Integrin beta-1 3688 reviewed Receptor
P07202 BXGT006565 Thyroid peroxidase 7173 reviewed Enzyme
P07359 BXGT006612 Platelet glycoprotein Ib alpha chain 2811 reviewed Receptor
P08514 BXGT006781 Integrin alpha-IIb 3674 reviewed
P13224 BXGT007890 Platelet glycoprotein Ib beta chain 2812 reviewed
P17301 BXGT008299 Integrin alpha-2 3673 reviewed
P21802 BXGT008691 Fibroblast growth factor receptor 2 2263 reviewed Kinase
P21817 BXGT008693 Ryanodine receptor 1 6261 reviewed Ion channel
P28482 BXGT009263 Mitogen-activated protein kinase 1 5594 reviewed Kinase
P29466 BXGT009349 Caspase-1 834 reviewed Enzyme
P32119 BXGT009600 Peroxiredoxin-2 7001 reviewed Enzyme
P35579 BXGT009852 Myosin-9 4627 reviewed
P40225 BXGT010168 Thrombopoietin 7066 reviewed
P46108 BXGT010509 Adapter molecule crk 1398 reviewed
Q04844 BXGT012789 Acetylcholine receptor subunit epsilon 1145 reviewed Ion channel
Q13155 BXGT013320 Aminoacyl tRNA synthase complex-interacting multifunctional protein 2 7965 reviewed
Q15848 BXGT013609 Adiponectin 9370 reviewed
Q16539 BXGT013634 Mitogen-activated protein kinase 14 1432 reviewed Kinase
Q96P20 BXGT019704 NACHT, LRR and PYD domains-containing protein 3 114548 reviewed
Q9NP58 BXGT021143 ATP-binding cassette sub-family B member 6, mitochondrial 10058 reviewed Transporter
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