Showing entry for Russell-Silver syndrome


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD004001
Disease NameRussell-Silver syndrome
Disease CUI IdC0175693
MeSH Codes C16   C05  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:630   DOID:7   DOID:225   DOID:150  
Disease Ontology Class Namegenetic disease; disease of anatomical entity; syndrome; disease of mental health
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
A0A024RAV5 BXGT000013 V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog, isoform CRA_b 3845 unreviewed
O00329 BXGT003909 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform 5293 reviewed Kinase
O15409 BXGT004166 Forkhead box protein P2 93986 reviewed
O15455 BXGT004171 Toll-like receptor 3 7098 reviewed Receptor
O75147 BXGT005102 Obscurin-like protein 1 23363 reviewed
O95831 BXGT005399 Apoptosis-inducing factor 1, mitochondrial 9131 reviewed Enzyme
P00533 BXGT005575 Epidermal growth factor receptor 1956 reviewed Kinase
P01116 BXGT005733 GTPase KRas 3845 reviewed Enzyme modulator
P01133 BXGT005736 Pro-epidermal growth factor 1950 reviewed
P02452 BXGT005878 Collagen alpha-1(I) chain 1277 reviewed
P04049 BXGT006133 RAF proto-oncogene serine/threonine-protein kinase 5894 reviewed Kinase
P04083 BXGT006147 Annexin A1 301 reviewed
P04150 BXGT006154 Glucocorticoid receptor 2908 reviewed Nuclear receptor
P04792 BXGT006264 Heat shock protein beta-1 3315 reviewed
P06401 BXGT006436 Progesterone receptor 5241 reviewed Nuclear receptor
P06744 BXGT006494 Glucose-6-phosphate isomerase 2821 reviewed Enzyme
P08069 BXGT006723 Insulin-like growth factor 1 receptor 3480 reviewed Kinase
P08833 BXGT006827 Insulin-like growth factor-binding protein 1 3484 reviewed Enzyme modulator
P09619 BXGT006911 Platelet-derived growth factor receptor beta 5159 reviewed Kinase
P12004 BXGT007766 Proliferating cell nuclear antigen 5111 reviewed Nucleic acid binding
P15328 BXGT008108 Folate receptor alpha 2348 reviewed
P15382 BXGT008116 Potassium voltage-gated channel subfamily E member 1 3753 reviewed Ion channel
P17936 BXGT008357 Insulin-like growth factor-binding protein 3 3486 reviewed Enzyme modulator
P20309 BXGT008562 Muscarinic acetylcholine receptor M3 1131 reviewed G-protein coupled receptor
P20711 BXGT008594 Aromatic-L-amino-acid decarboxylase 1644 reviewed
P22102 BXGT008731 Trifunctional purine biosynthetic protein adenosine-3 2618 reviewed Enzyme
P22607 BXGT008784 Fibroblast growth factor receptor 3 2261 reviewed Kinase
P23378 BXGT008859 Glycine dehydrogenase (decarboxylating), mitochondrial 2731 reviewed Enzyme
P30536 BXGT009435 Translocator protein 706 reviewed
P41250 BXGT010244 Glycine--tRNA ligase 2617 reviewed Enzyme
P42336 BXGT010302 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform 5290 reviewed Kinase
P42338 BXGT010303 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform 5291 reviewed Kinase
P48728 BXGT010654 Aminomethyltransferase, mitochondrial 275 reviewed
P48736 BXGT010658 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform 5294 reviewed Kinase
P49711 BXGT010728 Transcriptional repressor CTCF 10664 reviewed Transcription factor
P51787 BXGT010889 Potassium voltage-gated channel subfamily KQT member 1 3784 reviewed Ion channel
P52292 BXGT010925 Importin subunit alpha-1 3838 reviewed Transporter
P52788 BXGT010953 Spermine synthase 6611 reviewed
P63092 BXGT011495 Guanine nucleotide-binding protein G(s) subunit alpha isoforms short 2778 reviewed
Q06124 BXGT012856 Tyrosine-protein phosphatase non-receptor type 11 5781 reviewed
Q07889 BXGT012946 Son of sevenless homolog 1 6654 reviewed Enzyme modulator
Q13535 BXGT013370 Serine/threonine-protein kinase ATR 545 reviewed Kinase
Q14032 BXGT013438 Bile acid-CoA:amino acid N-acyltransferase 570 reviewed
Q16236 BXGT013624 Nuclear factor erythroid 2-related factor 2 4780 reviewed Enzyme
Q92963 BXGT019401 GTP-binding protein Rit1 6016 reviewed Enzyme modulator
Q9NZI2 BXGT021272 Kv channel-interacting protein 1 30820 reviewed Ion channel
Q9UI42 BXGT021713 Carboxypeptidase A4 51200 reviewed Enzyme
Q8TBZ3 BXGT023141 WD repeat-containing protein 20 91833 reviewed
Q9UBP0 BXGT023601 Spastin 6683 reviewed Cellular structure
Q96L73 BXGT024676 Histone-lysine N-methyltransferase, H3 lysine-36 specific 64324 reviewed Epigenetic regulator
Q13635 BXGT024910 Protein patched homolog 1 5727 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