Showing entry for SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1



                               
General Disease Information
BXGD IdBXGD010805
Disease NameSIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
Disease CUI IdC0796154
MeSH Codes C23   C16   C05   C10   C19   F03   F01   C14  
Disease Class NamePathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular 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
P00492 BXGT005556 Hypoxanthine-guanine phosphoribosyltransferase 3251 reviewed Enzyme
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P05106 BXGT006315 Integrin beta-3 3690 reviewed Receptor
P05230 BXGT006344 Fibroblast growth factor 1 2246 reviewed Signaling
P10145 BXGT007542 Interleukin-8 3576 reviewed Signaling
P10809 BXGT007617 60 kDa heat shock protein, mitochondrial 3329 reviewed
P13500 BXGT007916 C-C motif chemokine 2 6347 reviewed Signaling
P14672 BXGT008037 Solute carrier family 2, facilitated glucose transporter member 4 6517 reviewed Transporter
P16070 BXGT008186 CD44 antigen 960 reviewed
P27361 BXGT009176 Mitogen-activated protein kinase 3 5595 reviewed Kinase
P35052 BXGT009788 Glypican-1 2817 reviewed
P35222 BXGT009799 Catenin beta-1 1499 reviewed
P37231 BXGT009972 Peroxisome proliferator-activated receptor gamma 5468 reviewed Nuclear receptor
P43490 BXGT010395 Nicotinamide phosphoribosyltransferase 10135 reviewed Signaling
P50591 BXGT010814 Tumor necrosis factor ligand superfamily member 10 8743 reviewed Signaling
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
Q07869 BXGT012945 Peroxisome proliferator-activated receptor alpha 5465 reviewed Nuclear receptor
Q15848 BXGT013609 Adiponectin 9370 reviewed
Q16666 BXGT013654 Gamma-interferon-inducible protein 16 3428 reviewed Transcription factor
Q6NUM9 BXGT016430 All-trans-retinol 13,14-reductase 54884 reviewed
Q9C0B1 BXGT020209 Alpha-ketoglutarate-dependent dioxygenase FTO 79068 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