Showing entry for Bardet-Biedl Syndrome


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD010684
Disease NameBardet-Biedl Syndrome
Disease CUI IdC0752166
MeSH Codes C16   C11   C10  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System 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
O00139 BXGT003881 Kinesin-like protein KIF2A 3796 reviewed Cellular structure
O43617 BXGT004607 Trafficking protein particle complex subunit 3 27095 reviewed
O60260 BXGT004864 E3 ubiquitin-protein ligase parkin 5071 reviewed Enzyme
O75129 BXGT005101 Astrotactin-2 23245 reviewed
P01303 BXGT005748 Pro-neuropeptide Y 4852 reviewed Signaling
P06213 BXGT006425 Insulin receptor 3643 reviewed Kinase
P08100 BXGT006725 Rhodopsin 6010 reviewed G-protein coupled receptor
P0DMM9 BXGT007504 Sulfotransferase 1A3 6818 reviewed
P11308 BXGT007684 Transcriptional regulator ERG 2078 reviewed Transcription factor
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P24298 BXGT008960 Alanine aminotransferase 1 2875 reviewed Enzyme
P35243 BXGT009803 Recoverin 5957 reviewed
P35913 BXGT009879 Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta 5158 reviewed
P49146 BXGT010681 Neuropeptide Y receptor type 2 4887 reviewed G-protein coupled receptor
P61006 BXGT011345 Ras-related protein Rab-8A 4218 reviewed
Q13402 BXGT013348 Unconventional myosin-VIIa 4647 reviewed Cellular structure
Q14116 BXGT013442 Interleukin-18 3606 reviewed
Q15848 BXGT013609 Adiponectin 9370 reviewed
Q8NER1 BXGT018556 Transient receptor potential cation channel subfamily V member 1 7442 reviewed Ion channel
Q8WXR4 BXGT019015 Myosin-IIIb 140469 reviewed Kinase
Q9BVG8 BXGT020144 Kinesin-like protein KIFC3 3801 reviewed Cellular structure
Q9H0F7 BXGT020435 ADP-ribosylation factor-like protein 6 84100 reviewed
Q9NRR6 BXGT021193 Phosphatidylinositol polyphosphate 5-phosphatase type IV 56623 reviewed
P16284 BXGT022972 Platelet endothelial cell adhesion molecule 5175 reviewed Cell adhesion
Q9UNE7 BXGT025000 E3 ubiquitin-protein ligase CHIP 10273 reviewed
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