Showing entry for ARTERIAL TORTUOSITY SYNDROME


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD015926
Disease NameARTERIAL TORTUOSITY SYNDROME
Disease CUI IdC1859726
MeSH Codes C16   C17   C05   C14  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:7  
Disease Ontology Class Namedisease 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
O43324 BXGT004588 Eukaryotic translation elongation factor 1 epsilon-1 9521 reviewed
P02462 BXGT005881 Collagen alpha-1(IV) chain 1282 reviewed
P02649 BXGT005909 Apolipoprotein E 348 reviewed
P02751 BXGT005943 Fibronectin 2335 reviewed Signaling
P07237 BXGT006576 Protein disulfide-isomerase 5034 reviewed
P11166 BXGT007661 Solute carrier family 2, facilitated glucose transporter member 1 6513 reviewed Transporter
P21589 BXGT008669 5'-nucleotidase 4907 reviewed Enzyme
P23528 BXGT008879 Cofilin-1 1072 reviewed
P27169 BXGT009161 Serum paraoxonase/arylesterase 1 5444 reviewed
P29400 BXGT009343 Collagen alpha-5(IV) chain 1287 reviewed
P35579 BXGT009852 Myosin-9 4627 reviewed
P36897 BXGT009941 TGF-beta receptor type-1 7046 reviewed Kinase
P37173 BXGT009970 TGF-beta receptor type-2 7048 reviewed Kinase
P42898 BXGT010344 Methylenetetrahydrofolate reductase 4524 reviewed
P63279 BXGT011514 SUMO-conjugating enzyme UBC9 7329 reviewed
P84022 BXGT012027 Mothers against decapentaplegic homolog 3 4088 reviewed Transcription factor
Q96NY9 BXGT019703 Crossover junction endonuclease MUS81 80198 reviewed
Q01955 BXGT023255 Collagen alpha-3(IV) chain 1285 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