Showing entry for Usher Syndrome



                               
General Disease Information
BXGD IdBXGD006163
Disease NameUsher Syndrome
Disease CUI IdC0271097
MeSH Codes C23   C16   C11   C10   C09  
Disease Class NamePathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:630   DOID:225  
Disease Ontology Class Namegenetic disease; syndrome
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
P02774 BXGT005959 Vitamin D-binding protein 2638 reviewed Transporter
P12081 BXGT007772 Histidine--tRNA ligase, cytoplasmic 3035 reviewed Enzyme
P29033 BXGT009308 Gap junction beta-2 protein 2706 reviewed Cell-cell junction
P35243 BXGT009803 Recoverin 5957 reviewed
P43080 BXGT010354 Guanylyl cyclase-activating protein 1 2978 reviewed
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
Q04721 BXGT012777 Neurogenic locus notch homolog protein 2 4853 reviewed
Q13402 BXGT013348 Unconventional myosin-VIIa 4647 reviewed Cellular structure
Q13510 BXGT013367 Acid ceramidase 427 reviewed Enzyme
Q495M9 BXGT014765 Usher syndrome type-1G protein 124590 reviewed
Q8TDS5 BXGT018813 Oxoeicosanoid receptor 1 165140 reviewed G-protein coupled receptor
Q8TDV0 BXGT018815 Probable G-protein coupled receptor 151 134391 reviewed G-protein coupled receptor
Q92834 BXGT019381 X-linked retinitis pigmentosa GTPase regulator 6103 reviewed
Q96QU1 BXGT019721 Protocadherin-15 65217 reviewed
Q99828 BXGT019967 Calcium and integrin-binding protein 1 10519 reviewed
Q9H251 BXGT020449 Cadherin-23 64072 reviewed
Q9NRX4 BXGT021198 14 kDa phosphohistidine phosphatase 29085 reviewed
Q9ULV0 BXGT021763 Unconventional myosin-Vb 4645 reviewed Cellular structure
Q9ULV1 BXGT021764 Frizzled-4 8322 reviewed G-protein coupled receptor
Q9Y6N9 BXGT022337 Harmonin 10083 reviewed Cellular structure
Q9BV73 BXGT025119 Centrosome-associated protein CEP250 11190 reviewed Enzyme modulator
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