Showing entry for Hereditary hemorrhagic telangiectasia


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD002810
Disease NameHereditary hemorrhagic telangiectasia
Disease CUI IdC0039445
MeSH Codes C16   C15   C14  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; 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
O00329 BXGT003909 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform 5293 reviewed Kinase
O15123 BXGT004130 Angiopoietin-2 285 reviewed Signaling
P00533 BXGT005575 Epidermal growth factor receptor 1956 reviewed Kinase
P01137 BXGT005737 Transforming growth factor beta-1 proprotein 7040 reviewed Signaling
P05231 BXGT006345 Interleukin-6 3569 reviewed
P07204 BXGT006567 Thrombomodulin 7056 reviewed
P10635 BXGT007595 Cytochrome P450 2D6 1565 reviewed
P15056 BXGT008075 Serine/threonine-protein kinase B-raf 673 reviewed Kinase
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P17948 BXGT008358 Vascular endothelial growth factor receptor 1 2321 reviewed Kinase
P20936 BXGT008619 Ras GTPase-activating protein 1 5921 reviewed Enzyme modulator
P37023 BXGT009953 Serine/threonine-protein kinase receptor R3 94 reviewed Kinase
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
P42345 BXGT010304 Serine/threonine-protein kinase mTOR 2475 reviewed Kinase
P42574 BXGT010317 Caspase-3 836 reviewed Enzyme
P48736 BXGT010658 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform 5294 reviewed Kinase
P55211 BXGT011111 Caspase-9 842 reviewed Enzyme
Q13315 BXGT013339 Serine-protein kinase ATM 472 reviewed Kinase
Q13485 BXGT013363 Mothers against decapentaplegic homolog 4 4089 reviewed Transcription factor
Q13873 BXGT013398 Bone morphogenetic protein receptor type-2 659 reviewed Kinase
Q16236 BXGT013624 Nuclear factor erythroid 2-related factor 2 4780 reviewed Enzyme
Q9UQD0 BXGT021811 Sodium channel protein type 8 subunit alpha 6334 reviewed Ion channel
Q9UK05 BXGT023094 Growth/differentiation factor 2 2658 reviewed Signaling
Q15678 BXGT024385 Tyrosine-protein phosphatase non-receptor type 14 5784 reviewed
O14649 BXGT025486 Potassium channel subfamily K member 3 3777 reviewed Ion channel
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