Showing entry for Beckwith-Wiedemann Syndrome


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD000293
Disease NameBeckwith-Wiedemann Syndrome
Disease CUI IdC0004903
MeSH Codes C16  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities
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
O14746 BXGT004091 Telomerase reverse transcriptase 7015 reviewed Enzyme
P01111 BXGT005731 GTPase NRas 4893 reviewed Enzyme modulator
P01112 BXGT005732 GTPase HRas 3265 reviewed Enzyme modulator
P01270 BXGT005746 Parathyroid hormone 5741 reviewed
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P05109 BXGT006318 Protein S100-A8 6279 reviewed Calcium-binding protein
P08069 BXGT006723 Insulin-like growth factor 1 receptor 3480 reviewed Kinase
P09382 BXGT006882 Galectin-1 3956 reviewed Signaling
P0DN79 BXGT007511 Cystathionine beta-synthase-like protein 875 reviewed
P10646 BXGT007598 Tissue factor pathway inhibitor 7035 reviewed Enzyme modulator
P11717 BXGT007740 Cation-independent mannose-6-phosphate receptor 3482 reviewed Receptor
P17643 BXGT008323 5,6-dihydroxyindole-2-carboxylic acid oxidase 7306 reviewed Enzyme
P19544 BXGT008494 Wilms tumor protein 7490 reviewed Nucleic acid binding
P26358 BXGT009104 DNA (cytosine-5)-methyltransferase 1 1786 reviewed Epigenetic regulator
P30291 BXGT009417 Wee1-like protein kinase 7465 reviewed Kinase
P35520 BXGT009842 Cystathionine beta-synthase 875 reviewed
P42336 BXGT010302 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform 5290 reviewed Kinase
P42898 BXGT010344 Methylenetetrahydrofolate reductase 4524 reviewed
P49711 BXGT010728 Transcriptional repressor CTCF 10664 reviewed Transcription factor
P51787 BXGT010889 Potassium voltage-gated channel subfamily KQT member 1 3784 reviewed Ion channel
P52788 BXGT010953 Spermine synthase 6611 reviewed
P60033 BXGT011286 CD81 antigen 975 reviewed
P63092 BXGT011495 Guanine nucleotide-binding protein G(s) subunit alpha isoforms short 2778 reviewed
P84022 BXGT012027 Mothers against decapentaplegic homolog 3 4088 reviewed Transcription factor
Q00266 BXGT012515 S-adenosylmethionine synthase isoform type-1 4143 reviewed Enzyme
Q01082 BXGT012567 Spectrin beta chain, non-erythrocytic 1 6711 reviewed
Q09428 BXGT013036 ATP-binding cassette sub-family C member 8 6833 reviewed Transporter
Q13510 BXGT013367 Acid ceramidase 427 reviewed Enzyme
Q14654 BXGT013495 ATP-sensitive inward rectifier potassium channel 11 3767 reviewed Ion channel
Q86YC2 BXGT017633 Partner and localizer of BRCA2 79728 reviewed
Q96QE3 BXGT019718 ATPase family AAA domain-containing protein 5 79915 reviewed
Q9NRX4 BXGT021198 14 kDa phosphohistidine phosphatase 29085 reviewed
P25054 BXGT022961 Adenomatous polyposis coli protein 324 reviewed
Q8TBZ3 BXGT023141 WD repeat-containing protein 20 91833 reviewed
Q96L73 BXGT024676 Histone-lysine N-methyltransferase, H3 lysine-36 specific 64324 reviewed Epigenetic regulator
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